Saturday, November 24, 2012

Autism Genes, Finickiness & Rat Whiskers

Autism News

For several years studies have shown the gene with the peculiar name, Shank3, is associated with autism, but exactly how it is related has been unclear.  A new study from the University of Auckland, New Zealand by Dr. Johanna Montgomery shows that a mutation of that gene impairs transmission of signals between nerve cells.  Mutations are accidental changes in the DNA sequence of a nerve cell. These random sequences cause sudden and spontaneous changes in the cell's DNA. Mutations can be caused by various factors such as radiation, viruses, or certain chemicals. The cause in this case is unknown but the subject of intense research. The proteins in question are found on the nerve cell that receives the neurochemical signals, called post-synaptic proteins.  Dr. Montgomery and colleagues found that Shank3 regulates the function of a specific type of neurochemical necessary for nerve transmission (glutamate) and alters the structure of the portions of the nerve cell where synapses occur (called dendritic spines). These findings suggests it may be possible to discover what is causing most of these mutations and possibly prevent them, and secondarily, it may be possible to devise a therapy to undo some of the consequences of being born with such a mutation by target gene therapy.  J Neurosci. 2012 Oct 24;32(43):14966-78. doi: 10.1523/JNEUROSCI.2215-12.2012.

Quick Tips

Most parents of children with autism are concerned because their child is a finicky eater.  In addition to it being a headache a times to find foods your child will eat, it causes worry the child will be malnourished. Some are terrified s/he’s going to suffer from vitamin or mineral deficiencies.  The good news is that most kids, even very finicky kids, get enough balance in their overall diets to prevent significant nutritional deficiencies. Clinical studies show kids with ASDs generally prefer the same types of foods as other kids their age (sweet, salty and fatty), but much more so.  Like most things with kids on the ASD spectrum, everything is a big deal.   It’s a good idea to begin varying foods you give to your child very early and avoid power struggles.  Simply make small amounts of various foods available and praise the child for trying different foods.  Sometimes it is the texture more than the specific food type that counts, so experiment with serving the same food in a different texture (e.g. put apples through a blender rather than serving whole pieces of fresh apple). If you are very worried about your child’s nutrition, ask your child’s pediatrician for a vitamin or mineral supplement, in most cases a syrup, that could prevent any possible problems.  Pick your battles carefully and don’t waste your time and emotional energy on stuff that is less important.

Random Thoughts

We sometimes get ourselves into unnecessary and unproductive boxes by the decisions we make.  Lobbyist Gover Norquist convinced Republicans to take a No New Taxes Pledge, which is the root cause of the current Fiscal Cliff crisis, inability to use taxes on the wealthiest people, along with budget cuts, as part of the solution to budget problems.  We do the same things with our kids with autism.  We get an idea in our heads that a particular treatment is of essentially important for our kids, like Gluten-Casein Free Diet or Hyperbaric Oxygen, and refuse to pay attention to the evidence, that it just isn’t working.  In fact it may actually be making things worse.  It’s important to keep an open mind and keep up with the latest information from reliable sources about what is most effective for your children.  Don’t make yourself beholden to one or another group that makes you “take a pledge,” so to speak, committing your child and yourself to something that really doesn’t make sense based on solid evidence.

What I’m Up To:

Ford Ebner 2012 at
Conference in His Honor
I recently spoke at a retirement event for Dr. Ford Ebner, a distinguished neuroscientist at Vanderbilt University.  Dr. Ebner and I worked together for nine years when I was director of the John F. Kennedy Center and he was director of our neuroscience program.   Most of the other speakers were either contemporaries in neuroscience or former students or post-doctoral fellows who had worked with Ebner over the years.  He has been one of the pioneers in research showing how early brain connectivity and rewiring is fundamental to normal development (neuroplasticity), and the consquences of that going awry.  I gave a talk titled, “How I Discovered What Ford’s Rat’s Whiskers Have to Do with Children with Autism.”   I discussed how Ebner’s early work studying plasticity of neural connections of rat whisker neurons (one of the animal’s most important senses) and their brain have led to our understanding of neuroplasticity in children with autism, the basis for long term changes produced by Early Intensive Behavioral Intervention. It was an auspicious event with an opportunity to reflect on the link between basic science and application. 

Travis Thompson (2006) as Director
of the John F. Kennedy Center
Quote of the Week.

One of my very favorite science writers, Lewis Thomas was born 99 years ago this week.  Thomas once wrote, “Mistakes are at the very base of human thought feeding the structure like root nodules. If we were not provided with the knack of being wrong, we could never get anything useful done. “In The Medusa and the Snail (1979), 37.